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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SIAH2 Gene

protein-coding   GIFtS: 63
GCID: GC03M150458

siah E3 ubiquitin protein ligase 2

(Previous names: seven in absentia (Drosophila) homolog 2, seven in absentia...)
 Explore 14 diseases affiliated with
SIAH2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SIAH2    

Aliases
for SIAH2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Siah E3 Ubiquitin Protein Ligase 21 2     E3 Ubiquitin-Protein Ligase SIAH22
Seven In Absentia Homolog 22 3     Siah-23
HSiah21     EC 6.3.2.-3
Seven In Absentia (Drosophila) Homolog 21     Siah-23
Seven In Absentia Homolog 2 (Drosophila)1     EC 6.3.28

External Ids:    HGNC: 108581   Entrez Gene: 64782   Ensembl: ENSG000001817887   OMIM: 6022135   UniProtKB: O432553   

Export aliases for SIAH2 gene to outside databases

Previous GC identifers: GC03M147291 GC03M151291 GC03M151740 GC03M151779 GC03M151941 GC03M147832


Summaries
for SIAH2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SIAH2:
This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3
ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of
this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target
proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and
then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through
direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers
the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation
(POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in
synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal degradation of DYRK2 in response
to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes.
Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 can not.
Promotes monoubiquitination of SNCA

Gene Wiki entry for SIAH2


Genomic Views
for SIAH2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SIAH2 gene promoter:
         Max1   USF1   AML1a   E47   IRF-2   CP2   USF-1   SEF-1 (1)   c-Myc   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SIAH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIAH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIAH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25

SIAH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIAH2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M150458:  view genomic region     (about GC identifiers)

Start:
 150,458,910 bp from pter      End:
 150,481,264 bp from pter
Size:
 22,355 bases      Orientation:
 minus strand

Proteins
for SIAH2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase SIAH2  
Size: 324 amino acids; 34615 Da
Subunit: Homodimer. Interacts with UBE2E2. Interacts with PEG3 (By similarity). Interacts with VAV1, without mediating
its ubiquitin-mediated degradation. Interacts with CACYBP/SIP. Probable component of some large E3 complex possibly
composed of UBE2D1, SIAH2, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with PEG10, which may inhibit its activity.
Interacts with EGLN2 and SNCAIP. Interacts with DYRK2
Subcellular location: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear
Secondary accessions: O43270

Explore the universe of human proteins at neXtProt for SIAH2: NX_O43255

Post-translational modifications:

  • Phosphorylated at Ser-28 by MAPK14, which mediates the degradation by the proteasome of EGLN3 (By similarity).
    • Phosphorylated at Ser-28 by DYRK2; this increases the ubiquitin ligase activity and promotes degradation of EGLN31
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43255

    • 4/12 DME Specific Peptides for SIAH2 (O43255) (see all 12)
     YRLELNG  IRNLAME  SDCLVFD  RRRLTWEA 

    SIAH2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005058.3  
    ENSEMBL proteins: 
     ENSP00000322457   ENSP00000417619  
    Reactome Protein details: O43255
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    Uscn Proteins for SIAH2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm TAS10207103
    GO:0005769early endosome IEA--
    GO:0005829cytosol TAS--
    GO:0043005neuron projection IEA--


    SIAH2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SIAH2

    Protein Domains /
    Families
    for SIAH2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SIAH2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR008974 TRAF-like
     IPR018121 7-in-absentia-prot_TRAF-dom
     IPR001841 Znf_RING
     IPR013010 Znf_SIAH
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry O43255

    ProtoNet protein and cluster: O43255

    1 Blocks protein family: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
    Domain: The RING-type zinc finger domain is essential for ubiquitin ligase activity
    Domain: The SBD domain (substrate-binding domain) mediates the homodimerization and the interaction with substrate
    proteins. It is related to the TRAF family (By similarity)
    Similarity: Belongs to the SINA (Seven in absentia) family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 SIAH-type zinc finger


    Function
    for SIAH2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target
    proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and
    then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through
    direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers
    the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation
    (POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in
    synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal degradation of DYRK2 in response
    to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes.
    Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 can not.
    Promotes monoubiquitination of SNCA
    Enzyme regulation: Inhibited by interaction with SNCAIP (isoform 2, but not isoform 1). May be inhibited by interaction
    with PEG10

         Genatlas biochemistry entry for SIAH2:
    Drosophila seven in absentia (sina) homolog 2,involved in vertebrate (? photoreceptor) development,widely
    expressed,also mediating through RING finger,ubiquitin-conjugating enzyme (E2)-dependent ubiquitination

    Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

    miRNA
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    hsa-miR-320a hsa-miR-30c hsa-miR-146a hsa-miR-30d hsa-miR-1257 hsa-miR-340 hsa-miR-371-5p hsa-miR-218
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity TAS10207103
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0031624ubiquitin conjugating enzyme binding IEA--


    SIAH2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Siah2tm1Ddlb for SIAH2
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Siah2):
     cellular  mortality/aging  skeleton 

    SIAH2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SIAH2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    		Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway1.00
    		Parkin-Ubiquitin Proteasomal System pathway0.93
    		Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    2Axon guidance
    		Axon guidance1.00
    		Developmental Biology0.69
    3Netrin-1 signaling
    		Netrin-1 signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SIAH2
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway


    1 GeneGo (Thomson Reuters) Pathway for SIAH2
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

    1 BioSystems Pathway for SIAH2 
        Parkin-Ubiquitin Proteasomal System pathway

    3        Reactome Pathways for SIAH2
        Developmental Biology
    Netrin-1 signaling
    Axon guidance


    UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
    Pathway: Protein modification; protein ubiquitination


    SIAH2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIAH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for SIAH2 (O432551, 2, 3 ENSP000003224574) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIPK3Q9H4222, 3MINT-61751 I2D: score=3 
    SH3RF1Q7Z6J01, 3, ENSP000002846374EBI-948141,EBI-1374106 I2D: score=1 STRING: ENSP00000284637
    CACYBPQ9HB712, 3, ENSP000003566524MINT-19098 I2D: score=3 STRING: ENSP00000356652
    RAB4B-EGLN2Q96KS03, ENSP000003070804I2D: score=1 STRING: ENSP00000307080
    ATN1P542592, 3, ENSP000003490764MINT-2863199 I2D: score=3 STRING: ENSP00000349076
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007049cell cycle IEA--
    GO:0007264small GTPase mediated signal transduction TAS10207103
    GO:0007275multicellular organismal development ----
    GO:0007411axon guidance TAS--


    SIAH2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SIAH2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SIAH2

    4 HMDB Compounds for SIAH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Search CenterWatch for drugs/clinical trials and news about SIAH2 

    Transcripts
    for SIAH2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SIAH2 gene: 
    NM_005067.5  

    Unigene Cluster for SIAH2:

    Siah E3 ubiquitin protein ligase 2
    Hs.477959  [show with all ESTs]
    Unigene Representative Sequence: NM_005067
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312960(uc003eyi.3) ENST00000482706 ENST00000472885

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    Inhib. RNA
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    Additional cDNA sequence: 

    AK223565.1 BC013082.2 U76248.1 Y15268.1 

    9 DOTS entries:

    DT.99936786  DT.217384  DT.100744996  DT.120894480  DT.100783404  DT.100832690  DT.95136210  DT.95268701 
    DT.95268704 

    24/175 AceView cDNA sequences (see all 175):

    BU660111 BQ009650 BM980324 AA516115 AA716690 BU623657 BF514387 BU738357 
    Y15268 CK823255 AK055290 AI570518 BI333769 AA486935 AI804601 CK823254 
    AL576068 BX417548 CR611295 AW468725 BX395226 CR610024 CB306774 CB120456 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SIAH2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b
    SP1:              -     -                           
    SP2:                    -                           
    SP3:                                                


    ECgene alternative splicing isoforms for SIAH2

    Expression
    for SIAH2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SIAH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATTAGTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SIAH2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod Growth PlateBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SIAH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIAH2

    SOURCE GeneReport for Unigene cluster: Hs.477959

    UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
    Tissue specificity: Widely expressed at low level

        SABiosciences Expression via Pathway-Focused PCR Array including SIAH2: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for SIAH2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SIAH2 gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Siah21 , 5 seven in absentia 21, 5 93.29(n)1
    98.45(a)1    		   3 (28.68 cM)5
    204391  NM_009174.31  NP_033200.21 
     586749385 
    chicken
    (Gallus gallus)    		 Aves SIAH21 seven in absentia homolog 2 (Drosophila) 84.22(n)
    92.48(a)    		   429164  XM_426719.3  XP_426719.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SIAH36
    		 --
    		 98(a)
    		 1 ↔ 1
    		 3(18270308-18270966)
    African clawed frog
    (Xenopus laevis)    		 Amphibia siah2-A2 seven in absentia homolog 2 80.59(n)    AF155509.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii siah2l1 seven in absentia homolog 2 (Drosophila)-like 71.86(n)
    79.75(a)    		   378728  NM_200427.1  NP_956721.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta sina3 R7 cell fate commitment 81(a)
    (best of 2)    		   3 73D3   --
    worm
    (Caenorhabditis elegans)    		 Secernentea Y37E11AR.23   -- 67(a)   IV(3744137-3747213)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G617901 E3 ubiquitin-protein ligase SINAT3 44.44(n)
    35.74(a)    		   825352  NM_116044.3  NP_567118.1 
    rice
    (Oryza sativa)    		 Liliopsida Os05g02382001 hypothetical protein 48.12(n)
    36.97(a)    		   4338181  NM_001061529.1  NP_001054994.1 


    ENSEMBL Gene Tree for SIAH2 (if available)
    TreeFam Gene Tree for SIAH2 (if available) 

    Paralogs
    for SIAH2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIAH2 gene
    SIAH32  SIAH12  
    2 SIMAP similar genes for SIAH2 using alignment to 2 protein entries:     SIAH2_HUMAN (see all proteins):
    SIAH1    SIAH3

    SIAH2 for paralogs           About GeneDecksing



    Genomic Variants
    for SIAH2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/357 NCBI SNPs in SIAH2 are shown (see all 357)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1447470941,2
    		C,--150458421(+) TCCAG-/CCCCTCT 1 -- ds50010--------
    rs668415161,2
    		C--150458432(-) TTTTT-/TTTTTT 1 -- ds50011Minor allele frequency- T:0.00NA 2
    rs579870301,2
    		C--150458448(+) AAAAAG/AAAAAG 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs6434831,2
    		C,F,A,H,--150458449(+) AAAAAG/AAAAGA 1 -- ds50013Minor allele frequency- A:0.50NA WA 6
    rs1904266171,2
    		--150458498(+) TGCTGA/GGCATT 1 -- ds50010--------
    rs4812361,2
    		C,F,A,H,--150458543(+) GGGTTG/TGGACT 1 -- ds500127Minor allele frequency- C:0.01EA NA MN NS WA 2682
    rs1806853541,2
    		--150458547(+) TGGGAC/TTGAGG 1 -- ds50010--------
    rs730069881,2
    		C,F,--150458678(+) AGAAAC/TGACAG 1 -- ds50014Minor allele frequency- T:0.11WA CSA 123
    rs614229381,2
    		C,F,--150458821(+) TCCAAC/GCCCAG 1 -- ds50013Minor allele frequency- G:0.15WA CSA 122
    rs1452346891,2
    		--150458846(+) GTTCAC/TTGCAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SIAH2 (150458910 - 150481264 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SIAH2
         1 Indel: 68483

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    Disorders / Diseases
    for SIAH2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SIAH2 for disorders           About GeneDecksing

    OMIM gene information: 602213    OMIM disorders: --

    14 diseases for SIAH2:    About MalaCards
    hypoxia    usher syndrome    balanitis    parkinson's disease
    lung cancer    prostate cancer    breast cancer    ischemia
    ataxia    prostatitis    thyroiditis    melanoma
    leukemia    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: SIAH2 (2 documents)

    Export disorders for SIAH2 gene to outside databases

    Publications
    for SIAH2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SIAH2 gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with SIAH2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian homologs of seven in absentia regulate DCC via the ubiquitin-proteasome pathway. (PubMed id 9334332)1, 2, 3 Hu G.... Fearon E.R. (1997)
    2. Mutual regulation between SIAH2 and DYRK2 controls hypoxic and genotoxic signaling pathways. (PubMed id 22878263)1, 2 Perez M.... Calzado M.A. (2012)
    3. Synphilin-1A inhibits seven in absentia homolog (SIAH) and modulates alpha-synuclein monoubiquitylation and inclusion formation. (PubMed id 19224863)1, 2 Szargel R.... Engelender S. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Involvement of PEG10 in human hepatocellular carcinogenesis through interaction with SIAH1. (PubMed id 12810624)1, 2 Okabe H.... Nakamura Y. (2003)
    6. Stress-induced decrease in TRAF2 stability is mediated by Siah2. (PubMed id 12411493)1, 2 Habelhah H.... Ronai Z. (2002)
    7. Siah-1, SIP, and Ebi collaborate in a novel pathway for beta-catenin degradation linked to p53 responses. (PubMed id 11389839)1, 2 Matsuzawa S. and Reed J.C. (2001)
    8. Regulation of BOB.1/OBF.1 stability by SIAH. (PubMed id 11483518)1, 2 Boehm J.... Wirth T. (2001)
    9. hSiah2 is a new Vav binding protein which inhibits Vav-mediated signaling pathways. (PubMed id 10207103)1, 2 Germani A.... Varin-Blank N. (1999)
    10. Characterization of human homologs of the Drosophila seven in absentia (sina) gene. (PubMed id 9403064)1, 2 Hu G.... Fearon E.R. (1997)

    External Searches for SIAH2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SIAH2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6478 HGNC: 10858 AceView: SIAH2 Ensembl:ENSG00000181788 euGenes: HUgn6478
    ECgene: SIAH2 H-InvDB: SIAH2

    Other Databases showing SIAH2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SIAH2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SIAH2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SIAH2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SIAH2 gene:
    Search GeneIP for patents involving SIAH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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